A nonsense mutation which prematurely halts gene transcription becomes fixed in the population, leading to the loss of genes.
12.
The premature insertion of a stop codon, a nonsense mutation, can alter the primary structure of a protein.
13.
These strains cannot synthesize adenine due to a nonsense mutation in one of the enzymes involved in the biosynthetic pathway.
14.
Type I patients showed only deletions, insertions, and nonsense mutations were identified, most leading to shortened polypeptides.
15.
There are numerous mutations that lead to hexosaminidase A deficiency including gene deletions, nonsense mutations, and missense mutations.
16.
A nonsense mutation S108X in exon 9 was identified in a Hispanic male patient with severe recessive nemaline myopathy phenotype.
17.
Nonstop mutations differ from nonsense mutations in that they do not create a stop codon but, instead, delete one.
18.
In August 2014, ataluren received market authorization from the European Commission to treat patients with nonsense mutation Duchenne muscular dystrophy.
19.
Nonsense mutations are changes in DNA sequence that introduce a premature stop codon, causing any resulting protein to be abnormally shortened.
20.
Likewise, many of the nonsense mutations likely result in nonfunctional channels and hypoexcitability, though this has yet to be tested.
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